Aidan’s whole exome was sequenced in 2014. We found two genetic mutations, and it’s opened a whole new door for us.
Here’s Aidan’s PURA gene:
MADRDSGSEQGGAALGSGGSLGHPGSGSGSGGGGGGGGGGGGSGGGGGGAPGGLQHETQELAS KRVDIQNKRFYLDVKQNAKGRFLKIAEVGAGGNKSRLTLSMSVAVEFRDYLGDFIEHYAQLGPSQPPDLA QAQDEPRRALKSEFLVRENRKYYMDLKENQRGRFLRIRQTVNRGPGLGSTQGQTIALPAQGLIEFRDALAK LIDDYGVEEEPAELPEGTSLTVDSKRFFFDVGSNKYGVFMRVSEVKPTYRNSITVPYKVWAX
Where you have an N, Aidan has an S. These both have similar functions and so this variation may or may not be a problem. However, where you have a K, Aidan has an X. Look what happens after the X. Nothing. X is a genetic stop sign. Aidan has incomplete instructions and that is definitely a problem.
Posts About Pura:
Receiving a Rare Diagnosis – by Sarah Bloom Anderson
My Pura Gene Family in Poetry – by Sarah Bloom Anderson